Linked Data
ClinVar Variation Id:
1981350
ClinVar RCV Id:
RCV002751428
dbSNP Id:
rs370284242
ExAC:
6:30890881 C / T
gnomAD v2:
6-30890881-C-T
gnomAD v3:
6-30923104-C-T
gnomAD v4:
6-30923104-C-T
COSMIC:
COSM3861606
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30923104C>T , CM000668.2:g.30923104C>T | GRCh38 |
| NC_000006.11:g.30890881C>T , CM000668.1:g.30890881C>T | GRCh37 |
| NC_000006.10:g.30998860C>T | NCBI36 |
| NG_034224.1:g.13897C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541562.6:c.2186C>T | ENSP00000441000.2:p.Ala729Val | |
| ENST00000672801.1:c.2180C>T | ENSP00000500615.1:p.Ala727Val | |
| ENST00000676266.1:c.2186C>T MANE Select | ENSP00000502585.1:p.Ala729Val | |
| ENST00000321897.9:c.2186C>T | ENSP00000316092.5:p.Ala729Val | |
| ENST00000469358.5:n.2174C>T | ||
| ENST00000476162.5:n.973C>T | ||
| ENST00000477052.1:n.272C>T | ||
| ENST00000477288.5:n.4799C>T | ||
| ENST00000541562.5:c.2276C>T | ENSP00000441000.1:p.Ala759Val | |
| ENST00000542001.5:c.2180C>T | ENSP00000438200.2:p.Ala727Val | |
| ENST00000625423.2:c.1766C>T | ENSP00000485818.1:p.Ala589Val | |
| NM_001167733.2:c.1766C>T | NP_001161205.1:p.Ala589Val | |
| NM_001167734.1:c.2276C>T | NP_001161206.1:p.Ala759Val | |
| NM_020442.5:c.2186C>T | NP_065175.4:p.Ala729Val | |
| NM_001167733.3:c.1766C>T | NP_001161205.1:p.Ala589Val | |
| NM_001167734.2:c.2276C>T | NP_001161206.1:p.Ala759Val | |
| NM_020442.6:c.2186C>T MANE Select | NP_065175.4:p.Ala729Val |